Koepp P
Klin Monbl Augenheilkd. 1987 Jan;190(1):8-10. doi: 10.1055/s-2008-1050318.
Ectopia lentis is a common denominator of some connective tissue diseases such as Weill-Marchesani, Ehlers-Danlos, and Marfan's syndromes, osteogenesis imperfecta and homocystinuria. Early differential diagnosis (e.g., Marfan's syndrome vs. homocystinuria) is mandatory for prognostic (aortic aneurysm in Marfan's syndrome), therapeutic (dietetic and vitamin therapy in homocystinuria), and genetic reasons (genetic counseling).
晶状体异位是一些结缔组织疾病的共同特征,如韦尔-马歇桑尼综合征、埃勒斯-当洛综合征、马方综合征、成骨不全症和同型胱氨酸尿症。早期鉴别诊断(如马方综合征与同型胱氨酸尿症)对于预后(马方综合征中的主动脉瘤)、治疗(同型胱氨酸尿症中的饮食和维生素治疗)以及遗传原因(遗传咨询)而言是必不可少的。